摘要:

One of the HLA class II genes, HLA-DQA1, was typed from 290 unrelated healthy Japanese using the oligonucleotide typing method. The HLA-DQA1 gene was enzymatically amplified and typed by dot-blot hybridizations with 10 sequence-specific oligonucleotide probes labeled nonradioactively. Using this method, the HLA-DQA1 genotype was theoretically classified into 36 genotypes: 8 homozygous and 28 heterozygous ones. Actually, 26 genotypes were observed in the present study, and the gene frequency of each allele was calculated. The observed numbers were in accordance with the numbers expected under the Hardy-Weinberg equilibrium. The HLA-DQA1 genotype was also determined in aged bloodstains. Since the genotype is polymorphic in the Japanese population and a very small amount of blood is required for determination, this typing is particularly useful for forensic analysis.

ISSN:0001-5652    

DOI:10.1159/000154003

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

An isoelectric focusing (IEF) procedure in an ultra-narrow pH range, 4.2–4.9, has been utilized to detect α1-antitrypsin or α1-protease inhibitor (PI) allele products in 2 US white and 3 US black populations as well as 1 native African black population. In addition to the 3 common alleles PI*M1, PI*M2 and PI*M3, products of the 4th allele PI*M4 have been identified in US whites at low-level frequency. The presence of the PI*S, PI*Z and PI*I alleles has also been verified in our population samples. While the PI*S allele is present at a polymorphic level in US whites, it is only present sporadically in US blacks and is completely absent in African blacks. The PI*Z allele was not detected in the black populations tested. The PI allele frequency data have been used to calculate white admixture in US bla

ISSN:0001-5652    

DOI:10.1159/000154004

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

Humans possess 3 fully characterized kallikrein-like genes. The gene expressed in kidney, pancreas and salivary gland (KLK), and the gene encoding prostate-specific antigen (APS) have been localized to chromosome 19q13.2-qter. The present study describes the localization of the remaining gene, hGK-1 which has highest homology to and a similar tissue specificity of expression as the APS gene. Using a [3H]-labeled probe derived from a hGK-1 genomic clone, we demonstrated hybridization confined to the q13.3 and q13.4 bands of chromosome 19 and suggest that kallikrein genes may possibly be located near the border of these two bands.

ISSN:0001-5652    

DOI:10.1159/000154005

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

A Japanese family with unusual segregation of GM phenotype was found in connection with a case of disputed paternity. Typing for 27 hemogenetic marker systems revealed apparent nonmaternity in the GM system alone. When tested for 14 GM allo-types, the alleged father, the mother, and the child were of the GM AFZ N B0,1,3,4,5, S, T, U; GM AZ N’ GU; and GM AZ N’ B0,3,5, S, T types, respectively. The results of a family study strongly suggested that a GM silent allele was responsible for the apparent nonmaternity; however, definitive evidence could not be obtai

ISSN:0001-5652    

DOI:10.1159/000154006

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

Blood samples from 324 malarial patients and 384 healthy individuals belonging to the Ao tribal community have been examined for Duffy blood group systems. The complete absence of Duffy-negative individuals among the Ao Nagas suggests that selection for resistance to vivax malaria by means of the Duffy-negative phenotype has not been available in the southeast Asian regions including the Ao Nagas.

ISSN:0001-5652    

DOI:10.1159/000154007

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

Allele frequencies of 28 genetic loci were determined in subsets (n ranged from 52 to 698) of a sample of Yupik-speaking Eskimos from southwestern Alaska. Five loci were monomorphic (Kell Kp(b+), ADA1, AK1, HBA, and PGDA). At the other loci, the most frequent alleles were ABO0 (0.580), Fya (0.960), Jkb (0.513), Ms (0.333), CDe (0.591), ACPA (0.566), ESD1 (0.890), GLO2 (0.736), GPT1 (0.653), Hp2 (0.654), PGM1 (0.836), PGP1 (0.972), and UMPK1 (0.873). The most frequent immunoglobulin allotype Gm(1;21) occurred with a frequency of 0.829. The HLA alleles that occurred with highest frequencies were A24 (0.626), Bw48 (0.184), Cw3 (0.404), and DR4 (0.329). The average heterozygosity at all loci was 0.423. Based on the presence of the European allotype, Gm3;23;5,11,13, the proportion of European admixture in the Eskimo population was estimated to be 2.1%.

ISSN:0001-5652    

DOI:10.1159/000154008

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

In Finland there is a substantial but geographically limited Swedish-speaking minority (in 1980 6.3% of the total population) which originates mainly from Swedish immigrants during the years 1100–1300 AD. The admixture of this population with the neighbouring Finns was studied using more than 20 blood marker loci. The reference populations, Swedes and Finns, in spite of being part of the genetically rather uniform European populations, differ from each other genetically. These quantitative and also qualitative differences in gene frequencies are mostly due to the Finnish population possessing a number of genetic markers absent or rare in the rest of Europe. The results based on a sample of 620 individuals from the Swedish-speaking population in Finland showed a rather high degree of Finnish admixture, which was estimated to about 60%. This admixture most probably occurred at an early stage since it has reached such a high and geographically homogeneous degre

ISSN:0001-5652    

DOI:10.1159/000154009

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

Serum paraoxonase hydrolyzes paraoxon, the principal metabolite of the insecticide parathion. Serum paraoxonase is polymorphic and controlled by two codominant alleles – PON*A and PON*B representing low and high activity, respectively. Three populations of southeast Asia comprising 194 Chinese, 159 Filipinos and 73 Dravidian Indians were investigated for serum paraoxonase polymorphism. The frequency of PON*B was found to be 0.14 in the Chinese, 0.04 in the Filipinos and 0.18 in Dravidian Indians. The distribution of the PON phenotypes was at Hardy-Weinberg equilibrium in all the three populations studie

ISSN:0001-5652    

DOI:10.1159/000154010

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

The polymorphisms of the B subunit of coagulation factor XIII (F13B), plasminogen (PLG), complement C6, C7, factor B (BF) and factor I (IF) were studied among 21 unrelated Japanese patients with primary varicose veins (PVV) by isoelectric focusing followed by immunoblotting. The allele frequencies for F13B*2 and IF*A in PVV patients were significantly higher (F13B*2, p = 0.0047; IF*A, p = 0.0006) than those in healthy controls (n = 60). Significant associations of F13B 2 allotype [p = 0.0220, relative risk (RR) = 13.9] and IF A allotype (p = 0.0006, RR = 10.0) with PVV were observed; however, no significant association of PLG, C6, C7 or BF allotype with the disease was found.

ISSN:0001-5652    

DOI:10.1159/000154011

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

Blood samples from Koreans, Chinese, Hungarians and Germans were analyzed by isoelectric focusing on polyacrylamide gels and stained for formaldehyde dehydrogenase (FDH) activity. Three activity bands (one major and two minor) were observed in all blood samples studied. No distinct intra- and interpopulation differences were observed in the intensity of the three bands. Human autopsy liver samples also showed a similar three-activity band profile. An additional cathodic band was detected in a single case of autopsy liver extract from a Chinese subject. An apparent identity of FDH with the class III alcohol dehydrogenase was confirmed.

ISSN:0001-5652    

DOI:10.1159/000154012

出版商:S. Karger AG    

年代:1991

数据来源: Karger